Incidental Mutation 'R8309:Abcc4'
| ID |
641290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc4
|
| Ensembl Gene |
ENSMUSG00000032849 |
| Gene Name |
ATP-binding cassette, sub-family C member 4 |
| Synonyms |
MOAT-B, MRP4, D630049P08Rik |
| MMRRC Submission |
067794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118853804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 443
(V443M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036554
AA Change: V443M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: V443M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
92 |
365 |
4.5e-37 |
PFAM |
|
AAA
|
437 |
610 |
5.71e-12 |
SMART |
|
Pfam:ABC_membrane
|
714 |
993 |
4.2e-47 |
PFAM |
|
AAA
|
1067 |
1251 |
2.02e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166646
AA Change: V368M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: V368M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
98 |
290 |
4.1e-22 |
PFAM |
|
AAA
|
362 |
535 |
5.71e-12 |
SMART |
|
Pfam:ABC_membrane
|
638 |
922 |
4.6e-39 |
PFAM |
|
AAA
|
992 |
1176 |
2.02e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (82/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(143) : Targeted, knock-out(2) Gene trapped(141)
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,279,599 (GRCm39) |
Y34F |
possibly damaging |
Het |
| Abcb6 |
A |
T |
1: 75,149,588 (GRCm39) |
S664T |
probably benign |
Het |
| Abhd2 |
G |
A |
7: 78,998,095 (GRCm39) |
G209D |
probably damaging |
Het |
| Acte1 |
A |
G |
7: 143,437,680 (GRCm39) |
N126S |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Apbb2 |
T |
A |
5: 66,520,179 (GRCm39) |
M449L |
probably benign |
Het |
| Ccdc81 |
T |
A |
7: 89,526,786 (GRCm39) |
|
probably null |
Het |
| Cd209b |
A |
T |
8: 3,976,559 (GRCm39) |
C42* |
probably null |
Het |
| Cdhr18 |
G |
A |
14: 13,814,954 (GRCm38) |
Q860* |
probably null |
Het |
| Clec18a |
A |
T |
8: 111,808,689 (GRCm39) |
M11K |
probably benign |
Het |
| Clock |
A |
T |
5: 76,402,269 (GRCm39) |
S130R |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,512,465 (GRCm39) |
A2910V |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 105,952,414 (GRCm39) |
A495T |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,952 (GRCm39) |
N467I |
probably damaging |
Het |
| Ddo |
G |
A |
10: 40,513,375 (GRCm39) |
V106M |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,500,332 (GRCm39) |
L931P |
probably damaging |
Het |
| Dgcr6 |
A |
G |
16: 17,884,598 (GRCm39) |
D82G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,179,032 (GRCm39) |
S902P |
probably damaging |
Het |
| Dnal4 |
T |
G |
15: 79,646,711 (GRCm39) |
I57L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,156,592 (GRCm39) |
I174N |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,705 (GRCm39) |
E79G |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,922,201 (GRCm39) |
L420P |
probably damaging |
Het |
| Eeig2 |
G |
A |
3: 108,934,658 (GRCm39) |
|
probably benign |
Het |
| Efhb |
T |
C |
17: 53,756,563 (GRCm39) |
T363A |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,767,103 (GRCm39) |
F1245S |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,507,578 (GRCm39) |
D1453G |
probably benign |
Het |
| Fbp1 |
T |
C |
13: 63,016,831 (GRCm39) |
I224V |
probably benign |
Het |
| Gm10782 |
T |
G |
13: 56,510,948 (GRCm39) |
F79V |
noncoding transcript |
Het |
| Gpaa1 |
C |
G |
15: 76,216,160 (GRCm39) |
R47G |
possibly damaging |
Het |
| Hs2st1 |
G |
A |
3: 144,143,365 (GRCm39) |
S226L |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,334,534 (GRCm39) |
Y4992C |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,191,065 (GRCm39) |
C549* |
probably null |
Het |
| Insrr |
G |
A |
3: 87,717,749 (GRCm39) |
G817S |
probably benign |
Het |
| Itgb5 |
G |
A |
16: 33,685,923 (GRCm39) |
V88I |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,922 (GRCm39) |
V963A |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,376,093 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,246,361 (GRCm39) |
|
probably null |
Het |
| Mfn2 |
A |
T |
4: 147,974,693 (GRCm39) |
W118R |
probably benign |
Het |
| Mga |
T |
A |
2: 119,791,411 (GRCm39) |
I2550N |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,722,111 (GRCm39) |
I401V |
possibly damaging |
Het |
| Mrps18c |
A |
G |
5: 100,952,264 (GRCm39) |
Y141C |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,254,045 (GRCm39) |
I565L |
possibly damaging |
Het |
| Nfatc4 |
G |
A |
14: 56,063,848 (GRCm39) |
E112K |
probably damaging |
Het |
| Nubp1 |
A |
G |
16: 10,239,486 (GRCm39) |
M255V |
probably benign |
Het |
| Or13n4 |
A |
C |
7: 106,423,620 (GRCm39) |
S38A |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,288,658 (GRCm39) |
S230P |
probably damaging |
Het |
| Or8g33 |
C |
T |
9: 39,337,966 (GRCm39) |
V134I |
probably benign |
Het |
| Pask |
A |
T |
1: 93,240,573 (GRCm39) |
C1264* |
probably null |
Het |
| Pcgf2 |
T |
C |
11: 97,582,569 (GRCm39) |
T173A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,595,853 (GRCm39) |
I574T |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,411,437 (GRCm39) |
T865A |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,103,277 (GRCm39) |
V514A |
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,700 (GRCm39) |
I405F |
probably benign |
Het |
| Qpctl |
A |
G |
7: 18,882,398 (GRCm39) |
V86A |
probably benign |
Het |
| Rab3gap1 |
G |
T |
1: 127,837,655 (GRCm39) |
W239L |
possibly damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,246,786 (GRCm39) |
T939S |
possibly damaging |
Het |
| Rapgef2 |
G |
T |
3: 78,990,509 (GRCm39) |
T923N |
possibly damaging |
Het |
| Rit2 |
T |
A |
18: 31,286,898 (GRCm39) |
I96F |
probably damaging |
Het |
| Rnase13 |
A |
T |
14: 52,159,893 (GRCm39) |
I82N |
probably damaging |
Het |
| Rp1 |
C |
A |
1: 4,417,312 (GRCm39) |
V1267L |
probably benign |
Het |
| Serpinb9b |
G |
A |
13: 33,223,554 (GRCm39) |
E249K |
probably damaging |
Het |
| Serpinb9c |
G |
T |
13: 33,334,094 (GRCm39) |
T344K |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,998,151 (GRCm39) |
I160V |
possibly damaging |
Het |
| Sipa1 |
A |
G |
19: 5,704,964 (GRCm39) |
S544P |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,478,311 (GRCm39) |
Y231* |
probably null |
Het |
| Srcap |
T |
C |
7: 127,148,529 (GRCm39) |
V1959A |
probably damaging |
Het |
| Srrm4 |
G |
A |
5: 116,729,626 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,190,404 (GRCm39) |
I553T |
possibly damaging |
Het |
| Stpg1 |
A |
G |
4: 135,256,903 (GRCm39) |
I231M |
probably benign |
Het |
| Szt2 |
G |
GC |
4: 118,232,679 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
C |
T |
11: 73,170,747 (GRCm39) |
T209M |
probably damaging |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,544 (GRCm39) |
G479C |
unknown |
Het |
| Ttc3 |
A |
G |
16: 94,267,838 (GRCm39) |
H1950R |
probably damaging |
Het |
| Tusc3 |
A |
G |
8: 39,617,882 (GRCm39) |
*348W |
probably null |
Het |
| Utp4 |
A |
T |
8: 107,642,853 (GRCm39) |
T504S |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,635 (GRCm39) |
M168V |
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,704,578 (GRCm39) |
|
probably benign |
Het |
| Xrcc5 |
T |
A |
1: 72,358,286 (GRCm39) |
M207K |
possibly damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,964,417 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
| Zfp558 |
A |
C |
9: 18,368,213 (GRCm39) |
S192A |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp964 |
A |
G |
8: 70,115,924 (GRCm39) |
T175A |
possibly damaging |
Het |
| Zfp988 |
A |
G |
4: 147,416,765 (GRCm39) |
R400G |
probably damaging |
Het |
|
| Other mutations in Abcc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00768:Abcc4
|
APN |
14 |
118,766,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01152:Abcc4
|
APN |
14 |
118,836,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Abcc4
|
APN |
14 |
118,836,753 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01604:Abcc4
|
APN |
14 |
118,765,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01725:Abcc4
|
APN |
14 |
118,738,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01828:Abcc4
|
APN |
14 |
118,790,691 (GRCm39) |
splice site |
probably benign |
|
|
IGL02174:Abcc4
|
APN |
14 |
118,738,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02391:Abcc4
|
APN |
14 |
118,790,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Abcc4
|
APN |
14 |
118,856,338 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02598:Abcc4
|
APN |
14 |
118,905,781 (GRCm39) |
nonsense |
probably null |
|
|
IGL02668:Abcc4
|
APN |
14 |
118,848,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Abcc4
|
APN |
14 |
118,738,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02859:Abcc4
|
APN |
14 |
118,753,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03249:Abcc4
|
APN |
14 |
118,865,118 (GRCm39) |
splice site |
probably benign |
|
|
IGL03257:Abcc4
|
APN |
14 |
118,852,623 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03298:Abcc4
|
APN |
14 |
118,848,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Abcc4
|
UTSW |
14 |
118,867,068 (GRCm39) |
nonsense |
probably null |
|
|
R0743:Abcc4
|
UTSW |
14 |
118,790,700 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0884:Abcc4
|
UTSW |
14 |
118,790,700 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1139:Abcc4
|
UTSW |
14 |
118,738,252 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1238:Abcc4
|
UTSW |
14 |
118,835,051 (GRCm39) |
splice site |
probably benign |
|
|
R1588:Abcc4
|
UTSW |
14 |
118,771,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1678:Abcc4
|
UTSW |
14 |
118,832,306 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1785:Abcc4
|
UTSW |
14 |
118,790,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1786:Abcc4
|
UTSW |
14 |
118,790,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Abcc4
|
UTSW |
14 |
118,848,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1961:Abcc4
|
UTSW |
14 |
118,848,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1993:Abcc4
|
UTSW |
14 |
118,763,694 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2025:Abcc4
|
UTSW |
14 |
118,790,737 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3613:Abcc4
|
UTSW |
14 |
118,864,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3864:Abcc4
|
UTSW |
14 |
118,853,827 (GRCm39) |
missense |
probably benign |
|
|
R4274:Abcc4
|
UTSW |
14 |
118,867,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Abcc4
|
UTSW |
14 |
118,836,805 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4601:Abcc4
|
UTSW |
14 |
118,869,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4665:Abcc4
|
UTSW |
14 |
118,766,414 (GRCm39) |
missense |
probably benign |
|
|
R4678:Abcc4
|
UTSW |
14 |
118,865,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4771:Abcc4
|
UTSW |
14 |
118,721,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Abcc4
|
UTSW |
14 |
118,905,811 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4997:Abcc4
|
UTSW |
14 |
118,753,915 (GRCm39) |
nonsense |
probably null |
|
|
R5273:Abcc4
|
UTSW |
14 |
118,832,233 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5526:Abcc4
|
UTSW |
14 |
118,868,449 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5652:Abcc4
|
UTSW |
14 |
118,856,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5820:Abcc4
|
UTSW |
14 |
118,841,607 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5873:Abcc4
|
UTSW |
14 |
118,763,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6008:Abcc4
|
UTSW |
14 |
118,727,978 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6080:Abcc4
|
UTSW |
14 |
118,906,462 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6222:Abcc4
|
UTSW |
14 |
118,767,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Abcc4
|
UTSW |
14 |
118,832,306 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6931:Abcc4
|
UTSW |
14 |
118,765,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7013:Abcc4
|
UTSW |
14 |
118,763,755 (GRCm39) |
missense |
probably benign |
|
|
R7055:Abcc4
|
UTSW |
14 |
118,832,197 (GRCm39) |
nonsense |
probably null |
|
|
R7146:Abcc4
|
UTSW |
14 |
118,852,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Abcc4
|
UTSW |
14 |
118,865,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Abcc4
|
UTSW |
14 |
118,943,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Abcc4
|
UTSW |
14 |
118,853,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7528:Abcc4
|
UTSW |
14 |
118,767,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7674:Abcc4
|
UTSW |
14 |
118,848,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Abcc4
|
UTSW |
14 |
118,852,682 (GRCm39) |
frame shift |
probably null |
|
|
R7823:Abcc4
|
UTSW |
14 |
118,771,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7847:Abcc4
|
UTSW |
14 |
118,864,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7989:Abcc4
|
UTSW |
14 |
118,836,772 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8044:Abcc4
|
UTSW |
14 |
118,852,682 (GRCm39) |
frame shift |
probably null |
|
|
R8214:Abcc4
|
UTSW |
14 |
118,738,253 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8264:Abcc4
|
UTSW |
14 |
118,832,254 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8369:Abcc4
|
UTSW |
14 |
118,864,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8701:Abcc4
|
UTSW |
14 |
118,836,785 (GRCm39) |
missense |
probably benign |
|
|
R8942:Abcc4
|
UTSW |
14 |
118,790,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Abcc4
|
UTSW |
14 |
118,771,556 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9008:Abcc4
|
UTSW |
14 |
118,849,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9100:Abcc4
|
UTSW |
14 |
118,853,800 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9119:Abcc4
|
UTSW |
14 |
118,868,442 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9267:Abcc4
|
UTSW |
14 |
118,869,657 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAAGAACTGTTGAAAGCCAG -3'
(R):5'- TTGAAAAGGCTGTCAAGACGTG -3'
Sequencing Primer
(F):5'- TGTTGAAAGCCAGACAGCC -3'
(R):5'- TCAAGACGTGACAGCCAAAGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation